Xq21.1q21.31 Duplication in Two Male Siblings

2021 ◽  
pp. 1-7
Author(s):  
Charlotte Ann Sherlaw-Sturrock ◽  
Sarah Graham ◽  
Anita Morgan ◽  
Lisa Reali ◽  
Swati Naik
Keyword(s):  
Developmental Delay ◽  
Comparative Genomic Hybridisation ◽  
Global Developmental Delay ◽  
Comparative Genomic ◽  
Prader Willi Syndrome ◽  
Speech Delay ◽  
History Of ◽  
Variable Phenotype ◽  
Small Hands ◽  
Food Seeking

Despite the increased use of array comparative genomic hybridisation, duplications of Xq remain rarely reported in the literature. Xq21.1q21.31 duplication has previously been reported only once in a boy with features of Prader Willi syndrome (PWS). We report 2 malesiblings with maternally inherited duplication of Xq21.1q21.31 who demonstrate a variable phenotype. The proband has Prader Willi-like features such as global developmental delay, autism, obesity, short hands, and small genitalia with a history of food seeking behaviour, while his younger brother has isolated speech delay with some autistic features under evaluation. Both siblings have features such as bitemporal narrowing and small hands. It is therefore likely that the phenotype of duplications in this region is broader than PWS phenocopy, and further cases would be required to elucidate this.

scholarly journals Study of perinatal factors in children with developmental delay

2016 ◽  
Vol 4 (1) ◽  
pp. 182 ◽  
Author(s):  
Goli Sri Charan ◽  
Jayant Vagha
Keyword(s):  
Birth Weight ◽  
Developmental Delay ◽  
Gestational Age ◽  
Birth Asphyxia ◽  
Global Developmental Delay ◽  
Developmental Quotient ◽  
Birth History ◽  
History Of ◽  
Observational Descriptive Study ◽  
Birth Body Weight

Background: Birth history gives important information in children with developmental delay. Developmental challenge in children is an emerging problem across the globe, which is largely associated with improved neonatal survival. The present study highlights the importance of birth history in children with developmental delay in our hospital. The objective of this study was to study the perinatal events in children with developmental delay.Methods: Observational descriptive study was conducted on children between 6 months to 5 years who were admitted in Pediatric wards with suspected history of developmental delay. DDST II scale was performed on these children and children who failed on Denver II scale were recruited into the study. Birth history was noted in detail, if available, documentation of birth events was asked for and noted. Developmental history with developmental quotient (DQ), were noted in detail.Results: 135 children had developmental delay, 113 (83.70%) were born by vaginal delivery and 22 (16.30%) were born by caesarian section, 46 (34.18%) had no cry at birth and remaining 89 (65.92%) had normal cry at birth. 104 (77.04%) were born by term gestation and 31 (22.96%) were born preterm. Birth weight was normal in 78 (57.7%) children, LBW was seen 47 (34.81%) and 5 children each with VLBW and ELBW and 35 (25.93%) were IUGR. On comparing the children born gestational age and birth body weight with all four domains, there was no significant difference.Conclusions: Global developmental delay was more common in children born at preterm, low birth weight, IUGR and children who had birth asphyxia. Birth weight and gestational age did not significantly affect any particular domain of development. 

scholarly journals EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay

2020 ◽  
Vol 98 (6) ◽  
pp. 555-561
Author(s):  
Muhammad Umair ◽  
Mariam Ballow ◽  
Abdulaziz Asiri ◽  
Yusra Alyafee ◽  
Abeer Tuwaijri ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Developmental Delay ◽  
Global Developmental Delay ◽  
Speech Delay ◽  
Mild Intellectual Disability ◽  
Homozygous Variant

scholarly journals Array CGH Analysis and Developmental Delay: A Diagnostic Tool for Neurologists

2013 ◽  
Vol 40 (6) ◽  
pp. 777-782 ◽  
Author(s):  
F. Cameron ◽  
J. Xu ◽  
J. Jung ◽  
C. Prasad
Keyword(s):  
Developmental Delay ◽  
Uniparental Disomy ◽  
Chromosome Analysis ◽  
Deletion Syndrome ◽  
Global Developmental Delay ◽  
Unknown Etiology ◽  
Comparative Genomic ◽  
Illustrative Case ◽  
Genetic Syndromes ◽  
Copy Number Changes

Developmental delay occurs in 1–3% of the population, with unknown etiology in approximately 50% of cases. Initial genetic work up for developmental delay previously included chromosome analysis and subtelomeric FISH (fluorescent in situ hybridization). Array Comparative Genomic Hybridization (aCGH) has emerged as a tool to detect genetic copy number changes and uniparental disomy and is the most sensitive test in providing etiological diagnosis in developmental delay. aCGH allows for the provision of prognosis and recurrence risks, improves access to resources, helps limit further investigations and may alter medical management in many cases. aCGH has led to the delineation of novel genetic syndromes associated with developmental delay. An illustrative case of a 31-year-old man with long standing global developmental delay and recently diagnosed 4q21 deletion syndrome with a deletion of 20.8 Mb genomic interval is provided. aCGH is now recommended as a first line test in children and adults with undiagnosed developmental delay and congenital anomalies.

scholarly journals Expanding the Phenotype of TUBB2A-Related Tubulinopathy: Three Cases of a Novel, Heterozygous TUBB2A Pathogenic Variant p.Gly98Arg

2020 ◽  
pp. 1-8
Author(s):  
Lindsey Schmidt ◽  
Karen E. Wain ◽  
Catherine Hajek ◽  
Juvianee I. Estrada-Veras ◽  
Maria J. Guillen Sacoto ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Case Series ◽  
Missense Variant ◽  
Autism Spectrum ◽  
Cortical Dysplasia ◽  
Global Developmental Delay ◽  
Tubulin Genes ◽  
Pathogenic Variants ◽  
Brain Malformations ◽  
History Of

Tubulinopathies are a group of conditions caused by variants in 6 tubulin genes that present with a spectrum of brain malformations. One of these conditions is <i>TUBB2A</i>-related tubulinopathy. Currently, there are 9 reported individuals with pathogenic variants within the <i>TUBB2A</i> gene, with common manifestations including, but not limited to, global developmental delay, seizures, cortical dysplasia, and dysmorphic corpus callosum. We report 3 patients identified by exome and genome sequencing to have a novel, pathogenic, missense variant in <i>TUBB2A</i> (p.Gly98Arg). They presented similarly with intellectual disability, hypotonia, and global developmental delay and varied with respect to the type of cortical brain malformation, seizure history, diagnosis of autism spectrum disorder, and other features. This case series expands the natural history of <i>TUBB2A</i>-related tubulinopathy while describing the presentation of a novel, pathogenic, missense variant in 3 patients.

scholarly journals De Novo Interstitial Deletion of 9q in a Pediatric Patient With Global Developmental Delay

2019 ◽  
Vol 6 ◽  
pp. 2329048X1984492
Author(s):  
Dennis Keselman ◽  
Ram Singh ◽  
Ninette Cohen ◽  
Zipora Fefer
Keyword(s):  
Developmental Delay ◽  
De Novo ◽  
Snp Array ◽  
Interstitial Deletion ◽  
Global Developmental Delay ◽  
Comparative Genomic ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Basal Cell Nevus Syndrome ◽  
Ptch1 Gene

Cytogenomic microarray (CMA) methodologies, including array comparative genomic hybridization (aCGH) and single-nucleotide polymorphism-detecting arrays (SNP-array), are recommended as the first-tier test for the evaluation of imbalances associated with intellectual disability, autism, and multiple congenital anomalies. The authors report on a child with global developmental delay (GDD) and a de novo interstitial 7.0 Mb deletion of 9q21.33q22.31 detected by aCGH. The patient that the authors report here is noteworthy in that she presented with GDD and her interstitial deletion is not inclusive of the 9q22.32 locus that includes the PTCH1 gene, which is implicated in Gorlin syndrome, or basal cell nevus syndrome (BCNS), has not been previously reported among patients with a similar or smaller size of the deletion in this locus suggesting that the genomic contents in the identified deletion on 9q21.33q22.31 is critical for the phenotype.

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